William James Griffiths

This study identifies Mtb's enzymatic inactivation of host oxysterols as a mechanism to disrupt macrophage cholesterol homeostasis and generate treatment-responsive metabolic signatures in TB.

This study shows that deleting CH25H and LIPA genes in humans eliminates 25-hydroxycholesterol but not 7alpha,25-dihydroxysterols, and increases cholesterol oxidation, which is partially reversed by hematopoietic stem cell transplant.

The paper introduces a mass spectrometry sterolomic library to aid in diagnosing cholesterol-related inherited disorders by analyzing sterol profiles from 13 autosomal recessive disorders and predicting data for 8 more.

This study shows that 24S-HC and 27-HC, brain cholesterol metabolites, cause neuronal dysfunction in human iPSC-derived neurons by disrupting calcium signaling, organelle function, and alpha-synuclein accumulation.

The paper identifies convergent somatic escape variants in SERPINA1 in A1AT deficiency patients, showing adaptive mutations that counteract the disease-causing germline variant.

This study shows that CYFIP1 regulates cortical neurogenesis through oxysterol-liver X receptor signaling, with implications for genetic disorders linked to 15q11.2 CNVs.

The paper identifies Alzheimer's disease biomarkers in a cohort without common comorbidities, finding associations between biomarkers and pathways like neuroinflammation and oxidative stress.

The paper develops a mass spectrometry imaging method to map sterol distributions in mouse brain tissue, revealing spatial cholesterol metabolism patterns in wild-type and cholesterol 24S-hydroxylase knock-out mice.

The paper identifies differences in bile acid pathways for cholesterol clearance in Alzheimer’s disease by analyzing transcriptomes and metabolomics data from brain samples.